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Phaeochromocytoma recurrence in a patient with multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2A (MEN2A) is a hereditary syndrome associated with tumours of the endocrine system. Principally, it is characterized by medullary thyroid carcinoma (MTC) with some individuals also developing phaeochromocytoma and hyperparathyroidism. Patients with fewer than two c...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Oxford University Press
2020
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7568962/ https://www.ncbi.nlm.nih.gov/pubmed/33101640 http://dx.doi.org/10.1093/jscr/rjaa387 |
Sumario: | Multiple endocrine neoplasia type 2A (MEN2A) is a hereditary syndrome associated with tumours of the endocrine system. Principally, it is characterized by medullary thyroid carcinoma (MTC) with some individuals also developing phaeochromocytoma and hyperparathyroidism. Patients with fewer than two clinical features require either an identification of a germline rearranged in transfection mutation, or MEN2A characteristics in first-degree relatives, to establish a diagnosis of MEN2A. We present the case of a 54-year-old female with MEN2A, diagnosed by genetic screening, due to a substantial history of the disease in her ancestry. This case outlines the successful treatment of recurrent phaeochromocytoma, through the medium of radioactive iobenguane as an adjunct to surgical management. The report focuses particularly on the significance of innovative treatment strategies and forthcoming approaches to improve patient care in treating phaeochromocytoma in MEN2A. |
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